Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2025-06-03 DOI:10.1159/000546324

Gulin Tabanli, Filiz Hazan, Gulsen Ozer, Ozge Koprulu, Ozlem Nalbantoglu, Behzat Ozkan

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引用次数: 0

Abstract

Introduction: Opsismodysplasia (OPS) is a rare skeletal dysplasia characterized by delayed bone maturation, distinctive skeletal deformities, and severe growth impairment. Mutations in the INPPL1 gene, particularly homozygous variants, are the primary genetic cause of this condition. While bisphosphonate therapy has shown efficacy in OPS cases with hypophosphatemic rickets, its role in cases without this complication remains unclear.

Case presentation: A 2-year-and-2-month-old girl with OPS was treated with intravenous pamidronate (0.5 mg/kg/3 months). Initial evaluations showed severe short stature and low bone mineral density (DEXA SDS: -3.16). After three courses of treatment, the patient achieved independent walking, and her DEXA SDS improved to -2.5 over 1 year.

Discussion: Pamidronate is effective in treating OPS even in the absence of hypophosphatemic rickets, showing potential as a therapeutic option for this rare condition.

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帕米膦酸盐治疗Opsismodysplasia患者和一种新的INPPL1变异：疗效、机制和临床结果。

简介：Opsismodysplasia （OPS）是一种罕见的骨骼发育不良，其特征是骨骼成熟延迟，骨骼畸形和严重的生长障碍。INPPL1基因的突变，特别是纯合变异，是这种疾病的主要遗传原因。虽然双膦酸盐治疗已显示出对OPS合并低磷血症佝偻病的疗效，但其在没有这种并发症的病例中的作用仍不清楚。病例介绍：1例2岁零2个月的OPS女童静脉注射帕米膦酸钠（0.5 mg/kg/3个月）。初步评估显示严重身材矮小，骨密度低（DEXA SDS: -3.16）。经过三个疗程的治疗，患者实现了独立行走，DEXA SDS在1年内改善至-2.5。讨论：帕米膦酸盐即使在没有低磷血症佝偻病的情况下也能有效治疗OPS，显示出作为这种罕见疾病的治疗选择的潜力。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.